Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report

Abstract

Currarino syndrome (CS) is a congenital disorder characterized by partial sacral agenesis, anorectal malformation and a presacral mass. Only three cases of carcinoid transformation of the presacral mass have been described in the literature. We present a case of carcinoid transformation of presacral dermoid cyst in patient with Currarino syndrome.

Malignant transformation of presacral mass in Currarino syndrome

“…The high variability of CS expression suggests that the prevalence of CS is largely underestimated. Thirteen CS cases with malignant presacral lesions have been described in the literature (Table ), where six were malignant GCT ( n = 6), three neuroendocrine carcinoma, one peripheral primitive neuroectodermal tumor, one leiomyosarcoma, one ectopic nephroblastoma, and one carcinoid tumor . These findings represent approximately 4% of all reported CS cases, which is a number that appears to be low.…”

Presacral neuroendocrine tumors associated with the Currarino syndrome

“…Malignancy associated with the presacral mass in CS patients, which can include neuroendocrine tumor, malignant teratoma, ectopic nephroblastoma, and leiomyosarcoma, is thought to be exceedingly rare, with an estimated risk of 1%, and few cases have been reported in the literature (Ciotti et al, 2011; Lynch et al, 2000; Yoshida et al, 2010). Rarer still are presacral NETs associated with CS, which, prior to this report, have only been described six times, including the prior report of 491–1 by Liu et al (Ciotti et al, 2011; Colombo et al, 2019; Liu et al, 2020; Pendlimari et al, 2010; Urioste et al, 2004). To our knowledge, the occurrence of presacral NETs in multiple members of two families affected by CS as described here has not been previously reported.…”

“…In three case reports, the NET appeared to have arisen from a presacral teratoma, and while the tumors were well‐differentiated, all three presented with nodal or distant metastases, and two of the patients have died of their disease (Ciotti et al, 2011; Pendlimari et al, 2010; Urioste et al, 2004). In another report, the carcinoid was detected incidentally on final pathology, arising from a dermoid cyst (Colombo et al, 2019). Finally, a recent institutional review described briefly the proband of our first family, along with two other cases, one with liver metastases and the other nodal metastases, the latter of which had been previously described by Pendlimari et al (Liu et al, 2020).…”

“…Among those patients with presacral malignancy associated with CS, six cases of neuroendocrine tumors (NETs) have been reported (Table 1) (Ciotti et al, 2011; Colombo et al, 2019; Liu et al, 2020; Pendlimari et al, 2010; Urioste et al, 2004). In three case reports, the NET appeared to have arisen from a presacral teratoma, and while the tumors were well‐differentiated, all three presented with nodal or distant metastases, and two of the patients have died of their disease (Ciotti et al, 2011; Pendlimari et al, 2010; Urioste et al, 2004).…”

Malignant neuroendocrine tumour in an adult female diagnosed with Currarino syndrome

“…[5][6][7] Malignant neuroendocrine differentiation of the presacral mass is rare, with only four publications reporting neuroendocrine differentiation of the presacral mass. 5,[8][9][10] In the reported cases, the diagnosis of CS was made at ages 19, 10 The main presenting symptom is constipation. This is due to the anal stenosis and usually results in the diagnosis being made during childhood.…”